L54S (p.Leu54Ser) variant of PAH (Phenylalanine-4-hydroxylase)
L54S (p.Leu54Ser) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L54S (p.Leu54Ser) variant details
- p.Leu54Ser
- rs199475677
- ClinGen CA229448
- ClinVar RCV000088843
- ClinVar RCV000669099
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.88
- MetaLR 0.97
- MetaSVM 1.09
- CADD 25.40
- PolyPhen-2 0.96
- SIFT 0.38
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)